|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities.
|
30471280 |
2019 |
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD.
|
23449721 |
2013 |
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
|
18464802 |
2009 |
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
|
11689488 |
2001 |
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
|
11689488 |
2001 |
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Corneal dystrophy, Fuchs' endothelial, 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
|
11689488 |
2001 |
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
|
11689488 |
2001 |
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Investigated were samples of a normal tissue and a tissue with Fuchs' endothelial dystrophy (FECD, cornea Guttata).
|
30481279 |
2018 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases.
|
28384203 |
2017 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
|
25007886 |
2014 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
MGD |
The Col8a2(L450W/L450W) and Col8a2(Q455K/Q455K) mouse models of FECD showed distinct endothelial cell phenotypes.
|
23422828 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The coding regions of known FECD susceptibility genes collagen, type VIII, alpha 2 (COL8A2); solute carrier family 4, sodium borate transporter, member 11 (SLC4A11); and zinc finger E-box binding homeobox 1 (ZEB1 [also known as TCF8]) were Sanger sequenced in the 47 probands using DNA isolated from blood samples.
|
24348007 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, linkage, association and familial segregation analyses support a role of only one gene in each corneal endothelial dystrophy: ZEB1 in PPCD3, SLC4A11 in CHED2 and COL8A2 in FECD (early onset).
|
23662738 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD.
|
22956607 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To understand the relationship between FECD and central corneal thickness (CCT), we characterized common genetic variation in COL8A2 and TCF4, genes previously implicated in CCT and/or FECD.
|
23110055 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
MGD |
This study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations.
|
22002996 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This is the first study analysing COL8A2 gene in Indian patients with FECD.
|
20144242 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
|
18464802 |
2009 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene.
|
18502986 |
2009 |